Deafness and congenital structural abnormalities

Gene: PORCN

Red List (low evidence)

PORCN (porcupine O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 12 panels

2 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

PORCN is Goltz syndrome gene, different to this phenotype
Created: 17 Oct 2016, 12:34 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Mode of pathogenicity
Other

Sarah Leigh (Genomics England Curator)

Comment on list classification: Ear malformation is not always a feature of Fraser syndrome
Created: 20 Sep 2016, 6:38 a.m.
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least five variants reported.
Created: 19 Sep 2016, 2:53 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Focal Dermal Hypoplasia, 305600
OMIM
300651
Clinvar variants
Variants in PORCN
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PORCN was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Red

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PORCN was created by sleigh

5 Oct 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PORCN was added to Deafness and congenital structural abnormalitiespanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen